Canonical Allele Identifier: CA379475838

Gene: TPP1

Linked Data

• dbSNP Id: rs1855602976
• gnomAD v3: 11-6617355-T-C
• gnomAD v4: 11-6617355-T-C
• MyVariant Identifiers: chr11:g.6638586T>C (hg19) ; chr11:g.6617355T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617355T>C , CM000673.2:g.6617355T>C	GRCh38
NC_000011.9:g.6638586T>C , CM000673.1:g.6638586T>C	GRCh37
NC_000011.8:g.6595162T>C	NCBI36
NG_008653.1:g.7107A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.340A>G	ENSP00000507321.1:p.Arg114Gly
ENST00000299427.12:c.454A>G MANE Select	ENSP00000299427.6:p.Arg152Gly
ENST00000428886.7:n.542A>G
ENST00000436873.7:c.258A>G
ENST00000524788.2:n.1466A>G
ENST00000524903.2:n.1582A>G
ENST00000528571.6:c.*194A>G	ENSP00000434647.1:n.*194A>G
ENST00000528807.2:n.110A>G
ENST00000530040.2:n.479+4A>G
ENST00000533371.6:c.-276A>G	ENSP00000437066.1:n.-276A>G
ENST00000534644.6:n.455A>G
ENST00000642892.1:c.-223A>G	ENSP00000494165.1:n.-223A>G
ENST00000643439.1:c.*194A>G	ENSP00000495849.1:n.*194A>G
ENST00000643479.1:n.483A>G
ENST00000643516.1:c.341A>G
ENST00000644151.1:n.1746A>G
ENST00000644218.1:c.454A>G	ENSP00000493574.1:p.Arg152Gly
ENST00000644683.1:c.450+4A>G	ENSP00000494085.1:n.450+4A>G
ENST00000644810.1:c.230-202A>G	ENSP00000495895.1:n.230-202A>G
ENST00000644831.1:n.483A>G
ENST00000644933.1:c.-276A>G	ENSP00000496133.1:n.-276A>G
ENST00000645020.1:n.1482A>G
ENST00000645285.1:c.-276A>G	ENSP00000495058.1:n.-276A>G
ENST00000645331.1:n.673A>G
ENST00000645620.1:c.-222+4A>G	ENSP00000493657.1:n.-222+4A>G
ENST00000646777.1:n.483A>G
ENST00000647016.1:n.787A>G
ENST00000647152.1:c.-276A>G	ENSP00000495893.1:n.-276A>G
ENST00000647209.1:c.*323A>G	ENSP00000495558.1:n.*323A>G
ENST00000647346.1:n.1474A>G
ENST00000299427.10:c.454A>G	ENSP00000299427.6:p.Arg152Gly
ENST00000428886.6:n.476A>G
ENST00000436873.6:c.450+4A>G	ENSP00000398136.2:n.450+4A>G
ENST00000524788.1:n.7A>G
ENST00000528571.5:c.*194A>G	ENSP00000434647.1:n.*194A>G
ENST00000533371.5:c.-276A>G	ENSP00000437066.1:n.-276A>G
ENST00000534644.5:n.439A>G
ENST00000611494.4:c.454A>G	ENSP00000484546.1:p.Arg152Gly
NM_000391.3:c.454A>G	NP_000382.3:p.Arg152Gly
NM_000391.4:c.454A>G MANE Select	NP_000382.3:p.Arg152Gly